(Q72567837)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8225312%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

title

Two novel frameshift mutations associated with the presence of direct repeats of the LDL receptor gene in familial hypercholesterolemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8225312%20AND%20SRC:MED&resulttype=core&format=json

familial hypercholesterolemia

27 October 2019

main subject

1 reference

K Yamakawa-Kobayashi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8225312%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

T Kobayashi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8225312%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

K Saku

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8225312%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

K Arakawa

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8225312%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

H Hamaguchi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8225312%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

publication date

1 October 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8225312%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8225312%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

volume

92

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8225312%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8225312%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

page(s)

331-335

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8225312%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf01247329

27 October 2019

exact match

0 references

cites work

DNA deletions in the low density lipoprotein (LDL) receptor gene in Danish families with familial hypercholesterolemia

1 reference

12 December 2020

Three novel partial deletions of the low-density lipoprotein (LDL) receptor gene in familial hypercholesterolemia

1 reference

12 December 2020

The structure and evolution of the human beta-globin gene family

1 reference

12 December 2020

Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia

1 reference

12 December 2020

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

12 December 2020

The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland

1 reference

12 December 2020

Mechanisms of insertional mutagenesis in human genes causing genetic disease

1 reference

12 December 2020

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1 reference

12 December 2020

The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein

1 reference

12 December 2020

Family studies of the LDL receptor gene of relatively severe hereditary hypercholesterolemia associated with Achilles tendon xanthomas

1 reference

12 December 2020

DNA sequencing with chain-terminating inhibitors

1 reference

12 December 2020

The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA

1 reference

12 December 2020

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

12 December 2020

Repetitive sequences involved in the recombination leading to deletion of exon 5 of the low-density-lipoprotein receptor gene in a patient with familial hypercholesterolemia

1 reference

12 December 2020

Common low-density lipoprotein receptor mutations in the French Canadian population

1 reference

12 December 2020

Radiographic determination of Achilles tendon xanthoma size

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01247329

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8225312%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference